Mutagenetix > Incidental Mutation

Incidental Mutation 'R3944:Tcof1'

307628

Institutional Source

Beutler Lab

Gene Symbol

Tcof1

Ensembl Gene

ENSMUSG00000024613

Gene Name

treacle ribosome biogenesis factor 1

Synonyms

treacle

MMRRC Submission

040925-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60946827-60982043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 60955909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 927 (D927Y)

Ref Sequence

ENSEMBL: ENSMUSP00000130454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163446] [ENSMUST00000175934] [ENSMUST00000176630] [ENSMUST00000177172]

AlphaFold

O08784

Predicted Effect

probably damaging
Transcript: ENSMUST00000163446
AA Change: D927Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130454
Gene: ENSMUSG00000024613
AA Change: D927Y

Domain	Start	End	E-Value	Type
LisH	6	38	5.09e-4	SMART
Pfam:Treacle	108	322	2.2e-8	PFAM
Pfam:Treacle	321	793	4.6e-204	PFAM
low complexity region	819	834	N/A	INTRINSIC
low complexity region	855	874	N/A	INTRINSIC
low complexity region	879	893	N/A	INTRINSIC
low complexity region	916	927	N/A	INTRINSIC
low complexity region	967	977	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000175934
AA Change: D927Y

SMART Domains

Protein: ENSMUSP00000135639
Gene: ENSMUSG00000024613
AA Change: D927Y

Domain	Start	End	E-Value	Type
LisH	6	38	5.09e-4	SMART
low complexity region	75	109	N/A	INTRINSIC
Pfam:Treacle	153	329	1.6e-12	PFAM
Pfam:Treacle	321	792	6.1e-175	PFAM
Pfam:Treacle	782	936	3.2e-16	PFAM
low complexity region	969	982	N/A	INTRINSIC
low complexity region	1025	1039	N/A	INTRINSIC
low complexity region	1060	1074	N/A	INTRINSIC
low complexity region	1149	1172	N/A	INTRINSIC
low complexity region	1260	1285	N/A	INTRINSIC
coiled coil region	1306	1335	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000176630
AA Change: D891Y

SMART Domains

Protein: ENSMUSP00000135476
Gene: ENSMUSG00000024613
AA Change: D891Y

Domain	Start	End	E-Value	Type
LisH	6	38	5.09e-4	SMART
Pfam:Treacle	108	323	2.5e-8	PFAM
Pfam:Treacle	321	793	5.9e-204	PFAM
low complexity region	819	834	N/A	INTRINSIC
low complexity region	843	857	N/A	INTRINSIC
low complexity region	880	891	N/A	INTRINSIC
low complexity region	933	946	N/A	INTRINSIC
low complexity region	989	1003	N/A	INTRINSIC
low complexity region	1024	1038	N/A	INTRINSIC
low complexity region	1113	1136	N/A	INTRINSIC
low complexity region	1224	1249	N/A	INTRINSIC
coiled coil region	1270	1299	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000177172
AA Change: D843Y

SMART Domains

Protein: ENSMUSP00000134755
Gene: ENSMUSG00000024613
AA Change: D843Y

Domain	Start	End	E-Value	Type
LisH	6	38	5.09e-4	SMART
low complexity region	75	109	N/A	INTRINSIC
Pfam:Treacle	150	322	1.3e-10	PFAM
Pfam:Treacle	321	506	1.5e-78	PFAM
Pfam:Treacle	498	745	2e-105	PFAM
low complexity region	771	786	N/A	INTRINSIC
low complexity region	795	809	N/A	INTRINSIC
low complexity region	832	843	N/A	INTRINSIC
low complexity region	885	898	N/A	INTRINSIC
low complexity region	941	955	N/A	INTRINSIC
low complexity region	976	990	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Heterozygotes for a targeted null mutation die perinatally with severe craniofacial malformations including agenesis of the nasal passages, abnormal development of the maxilla, exencephaly, and anophthalmia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
6430548M08Rik	T	C	8: 120,879,241 (GRCm39)	L213P	probably damaging	Het
Akap12	A	G	10: 4,307,347 (GRCm39)	K1491E	probably benign	Het
Akr1c12	T	A	13: 4,329,339 (GRCm39)	H6L	probably benign	Het
Ankrd50	C	T	3: 38,506,645 (GRCm39)	C251Y	probably benign	Het
Bltp1	A	G	3: 37,084,210 (GRCm39)	I3876V	possibly damaging	Het
Bltp2	T	A	11: 78,160,350 (GRCm39)	L603*	probably null	Het
Calu	T	C	6: 29,361,710 (GRCm39)	S125P	possibly damaging	Het
Cdh10	A	G	15: 18,964,335 (GRCm39)	T166A	probably benign	Het
Clip1	T	C	5: 123,755,892 (GRCm39)		probably benign	Het
Cntn4	T	G	6: 106,595,375 (GRCm39)	N497K	probably benign	Het
Cspg4	T	A	9: 56,793,407 (GRCm39)	C381S	probably damaging	Het
Cyp1a2	T	C	9: 57,589,151 (GRCm39)	N221S	probably benign	Het
Dnaaf5	C	T	5: 139,138,679 (GRCm39)		probably benign	Het
Dnah7b	A	G	1: 46,176,645 (GRCm39)	D755G	probably damaging	Het
Dscam	A	T	16: 96,622,197 (GRCm39)	V418E	probably damaging	Het
Eefsec	T	A	6: 88,275,076 (GRCm39)	H296L	probably benign	Het
Elmo3	T	C	8: 106,035,852 (GRCm39)		probably null	Het
Gcm1	C	T	9: 77,967,098 (GRCm39)	Q106*	probably null	Het
Gnl1	G	T	17: 36,299,413 (GRCm39)	G528V	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
H2-T23	A	G	17: 36,341,535 (GRCm39)	V312A	probably benign	Het
Hectd4	C	A	5: 121,441,588 (GRCm39)		probably benign	Het
Hoxa7	T	A	6: 52,193,606 (GRCm39)		probably benign	Het
Ifnlr1	T	A	4: 135,428,539 (GRCm39)	V122E	probably damaging	Het
Kcnt2	T	C	1: 140,512,025 (GRCm39)	M1036T	probably damaging	Het
Khdc1b	G	T	1: 21,455,030 (GRCm39)	K96N	probably damaging	Het
Kif19a	A	T	11: 114,677,561 (GRCm39)	Y578F	probably benign	Het
Krt4	G	A	15: 101,829,685 (GRCm39)	T281M	probably benign	Het
Lyl1	A	C	8: 85,430,631 (GRCm39)	T178P	probably damaging	Het
Marchf6	A	G	15: 31,488,960 (GRCm39)	V317A	probably benign	Het
Mmp1b	G	A	9: 7,384,708 (GRCm39)	T280I	possibly damaging	Het
Mpi	T	C	9: 57,452,536 (GRCm39)	D332G	probably damaging	Het
Naip6	T	C	13: 100,431,247 (GRCm39)	T1197A	probably benign	Het
Ntng2	G	A	2: 29,094,289 (GRCm39)	L361F	probably benign	Het
Obscn	A	T	11: 59,023,373 (GRCm39)	I668N	probably damaging	Het
Or52x1	A	T	7: 104,853,162 (GRCm39)	C129*	probably null	Het
Or8k40	A	G	2: 86,584,525 (GRCm39)	S186P	probably benign	Het
Pabpc1l	A	G	2: 163,884,247 (GRCm39)	E328G	probably damaging	Het
Pan3	A	T	5: 147,387,540 (GRCm39)	N170Y	probably damaging	Het
Prdm2	C	T	4: 142,858,385 (GRCm39)	R1635Q	possibly damaging	Het
Rassf6	G	T	5: 90,752,185 (GRCm39)	Q258K	possibly damaging	Het
Ribc2	A	G	15: 85,019,451 (GRCm39)	M78V	probably benign	Het
Rp9	A	C	9: 22,361,154 (GRCm39)	H44Q	probably damaging	Het
Skint5	T	A	4: 113,799,950 (GRCm39)	H73L	probably damaging	Het
Slc6a12	A	T	6: 121,331,239 (GRCm39)		probably null	Het
Smg6	G	A	11: 74,820,367 (GRCm39)	G213R	probably damaging	Het
Spout1	A	G	2: 30,064,148 (GRCm39)	V372A	probably benign	Het
Svep1	T	A	4: 58,084,807 (GRCm39)		probably null	Het
Tab1	T	C	15: 80,037,941 (GRCm39)	L258P	probably damaging	Het
Tbl3	A	G	17: 24,919,682 (GRCm39)	S791P	possibly damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Topaz1	T	C	9: 122,579,669 (GRCm39)	S860P	possibly damaging	Het
Vill	T	C	9: 118,897,499 (GRCm39)	I258T	probably benign	Het
Vmn1r204	G	A	13: 22,741,014 (GRCm39)	R215H	probably benign	Het
Vmn2r106	A	T	17: 20,487,913 (GRCm39)	F829I	probably damaging	Het
Vmn2r14	A	T	5: 109,363,930 (GRCm39)	I662N	probably damaging	Het
Vmn2r58	A	T	7: 41,513,885 (GRCm39)	F253I	probably benign	Het
Vps8	A	T	16: 21,288,873 (GRCm39)	N411Y	probably damaging	Het
Zfp932	T	A	5: 110,157,820 (GRCm39)	V506E	probably benign	Het

Other mutations in Tcof1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Tcof1	APN	18	60,947,640 (GRCm39)	unclassified	probably benign
IGL01339:Tcof1	APN	18	60,951,167 (GRCm39)	utr 3 prime	probably benign
IGL02072:Tcof1	APN	18	60,964,637 (GRCm39)	missense	possibly damaging	0.85
IGL02160:Tcof1	APN	18	60,981,815 (GRCm39)	unclassified	probably benign
IGL02513:Tcof1	APN	18	60,964,850 (GRCm39)	missense	possibly damaging	0.51
IGL02823:Tcof1	APN	18	60,949,120 (GRCm39)	missense	probably benign	0.00
IGL03161:Tcof1	APN	18	60,966,560 (GRCm39)	missense	possibly damaging	0.86
IGL03291:Tcof1	APN	18	60,962,133 (GRCm39)	missense	possibly damaging	0.71
FR4304:Tcof1	UTSW	18	60,968,814 (GRCm39)	unclassified	probably benign
FR4589:Tcof1	UTSW	18	60,961,722 (GRCm39)	critical splice donor site	probably benign
FR4737:Tcof1	UTSW	18	60,961,722 (GRCm39)	critical splice donor site	probably benign
PIT4802001:Tcof1	UTSW	18	60,965,010 (GRCm39)	missense	unknown
R0569:Tcof1	UTSW	18	60,962,107 (GRCm39)	missense	possibly damaging	0.85
R0602:Tcof1	UTSW	18	60,966,605 (GRCm39)	missense	probably damaging	1.00
R0744:Tcof1	UTSW	18	60,978,904 (GRCm39)	missense	probably damaging	1.00
R0782:Tcof1	UTSW	18	60,949,352 (GRCm39)	missense	probably damaging	0.97
R0833:Tcof1	UTSW	18	60,978,904 (GRCm39)	missense	probably damaging	1.00
R0836:Tcof1	UTSW	18	60,978,904 (GRCm39)	missense	probably damaging	1.00
R0885:Tcof1	UTSW	18	60,968,922 (GRCm39)	missense	possibly damaging	0.84
R1465:Tcof1	UTSW	18	60,952,026 (GRCm39)	splice site	probably benign
R1528:Tcof1	UTSW	18	60,948,071 (GRCm39)	nonsense	probably null
R1643:Tcof1	UTSW	18	60,949,300 (GRCm39)	missense	possibly damaging	0.72
R1919:Tcof1	UTSW	18	60,949,156 (GRCm39)	missense	possibly damaging	0.85
R1920:Tcof1	UTSW	18	60,971,927 (GRCm39)	missense	possibly damaging	0.87
R1921:Tcof1	UTSW	18	60,971,927 (GRCm39)	missense	possibly damaging	0.87
R2023:Tcof1	UTSW	18	60,966,605 (GRCm39)	missense	probably damaging	1.00
R2108:Tcof1	UTSW	18	60,968,845 (GRCm39)	missense	probably damaging	0.97
R2114:Tcof1	UTSW	18	60,965,857 (GRCm39)	missense	possibly damaging	0.85
R2115:Tcof1	UTSW	18	60,965,857 (GRCm39)	missense	possibly damaging	0.85
R2116:Tcof1	UTSW	18	60,965,857 (GRCm39)	missense	possibly damaging	0.85
R2117:Tcof1	UTSW	18	60,965,857 (GRCm39)	missense	possibly damaging	0.85
R2156:Tcof1	UTSW	18	60,964,901 (GRCm39)	missense	possibly damaging	0.92
R2221:Tcof1	UTSW	18	60,970,973 (GRCm39)	missense	possibly damaging	0.51
R2229:Tcof1	UTSW	18	60,965,249 (GRCm39)	intron	probably benign
R2913:Tcof1	UTSW	18	60,949,156 (GRCm39)	missense	possibly damaging	0.85
R2914:Tcof1	UTSW	18	60,949,156 (GRCm39)	missense	possibly damaging	0.85
R3979:Tcof1	UTSW	18	60,964,605 (GRCm39)	missense	possibly damaging	0.71
R4049:Tcof1	UTSW	18	60,965,975 (GRCm39)	missense	possibly damaging	0.84
R4125:Tcof1	UTSW	18	60,952,673 (GRCm39)	missense	unknown
R5047:Tcof1	UTSW	18	60,964,986 (GRCm39)	missense	possibly damaging	0.86
R5433:Tcof1	UTSW	18	60,951,105 (GRCm39)	utr 3 prime	probably benign
R5546:Tcof1	UTSW	18	60,964,628 (GRCm39)	missense	possibly damaging	0.85
R5832:Tcof1	UTSW	18	60,952,611 (GRCm39)	missense	unknown
R5965:Tcof1	UTSW	18	60,966,490 (GRCm39)	critical splice donor site	probably null
R6301:Tcof1	UTSW	18	60,961,897 (GRCm39)	missense	probably damaging	0.97
R6480:Tcof1	UTSW	18	60,947,852 (GRCm39)	splice site	probably null
R6910:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R6911:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R7105:Tcof1	UTSW	18	60,976,368 (GRCm39)	missense	probably damaging	1.00
R7225:Tcof1	UTSW	18	60,961,520 (GRCm39)	missense	unknown
R7356:Tcof1	UTSW	18	60,951,166 (GRCm39)	missense	unknown
R7467:Tcof1	UTSW	18	60,964,977 (GRCm39)	missense	unknown
R7536:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R7804:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R7818:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R7863:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R8006:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R8007:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R8008:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R8063:Tcof1	UTSW	18	60,971,834 (GRCm39)	missense	probably damaging	1.00
R8192:Tcof1	UTSW	18	60,976,375 (GRCm39)	missense	probably damaging	1.00
R8200:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R8203:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R8204:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R8207:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R8217:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R8300:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R8517:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R8518:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R8553:Tcof1	UTSW	18	60,964,643 (GRCm39)	missense	possibly damaging	0.92
R8729:Tcof1	UTSW	18	60,962,145 (GRCm39)	missense	unknown
R8732:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R8749:Tcof1	UTSW	18	60,962,123 (GRCm39)	missense	possibly damaging	0.84
R9800:Tcof1	UTSW	18	60,949,558 (GRCm39)	missense	unknown
RF001:Tcof1	UTSW	18	60,968,811 (GRCm39)	unclassified	probably benign
RF007:Tcof1	UTSW	18	60,966,640 (GRCm39)	small insertion	probably benign
RF009:Tcof1	UTSW	18	60,968,815 (GRCm39)	unclassified	probably benign
RF010:Tcof1	UTSW	18	60,968,816 (GRCm39)	unclassified	probably benign
RF011:Tcof1	UTSW	18	60,968,811 (GRCm39)	unclassified	probably benign
RF013:Tcof1	UTSW	18	60,968,815 (GRCm39)	unclassified	probably benign
RF015:Tcof1	UTSW	18	60,966,656 (GRCm39)	small insertion	probably benign
RF016:Tcof1	UTSW	18	60,966,647 (GRCm39)	small insertion	probably benign
RF022:Tcof1	UTSW	18	60,968,807 (GRCm39)	unclassified	probably benign
RF024:Tcof1	UTSW	18	60,968,810 (GRCm39)	unclassified	probably benign
RF027:Tcof1	UTSW	18	60,968,808 (GRCm39)	unclassified	probably benign
RF029:Tcof1	UTSW	18	60,968,807 (GRCm39)	unclassified	probably benign
RF029:Tcof1	UTSW	18	60,968,817 (GRCm39)	unclassified	probably benign
RF030:Tcof1	UTSW	18	60,968,795 (GRCm39)	unclassified	probably benign
RF030:Tcof1	UTSW	18	60,966,646 (GRCm39)	small insertion	probably benign
RF030:Tcof1	UTSW	18	60,966,640 (GRCm39)	small insertion	probably benign
RF031:Tcof1	UTSW	18	60,968,817 (GRCm39)	unclassified	probably benign
RF031:Tcof1	UTSW	18	60,966,637 (GRCm39)	small insertion	probably benign
RF035:Tcof1	UTSW	18	60,966,625 (GRCm39)	small insertion	probably benign
RF036:Tcof1	UTSW	18	60,968,808 (GRCm39)	unclassified	probably benign
RF036:Tcof1	UTSW	18	60,961,480 (GRCm39)	small insertion	probably benign
RF038:Tcof1	UTSW	18	60,966,638 (GRCm39)	small insertion	probably benign
RF040:Tcof1	UTSW	18	60,966,655 (GRCm39)	small insertion	probably benign
RF040:Tcof1	UTSW	18	60,961,480 (GRCm39)	small insertion	probably benign
RF041:Tcof1	UTSW	18	60,966,648 (GRCm39)	small insertion	probably benign
RF041:Tcof1	UTSW	18	60,966,644 (GRCm39)	small insertion	probably benign
RF043:Tcof1	UTSW	18	60,966,644 (GRCm39)	small insertion	probably benign
RF050:Tcof1	UTSW	18	60,966,651 (GRCm39)	small insertion	probably benign
RF051:Tcof1	UTSW	18	60,966,651 (GRCm39)	small insertion	probably benign
RF053:Tcof1	UTSW	18	60,968,819 (GRCm39)	unclassified	probably benign
RF056:Tcof1	UTSW	18	60,966,647 (GRCm39)	small insertion	probably benign
RF057:Tcof1	UTSW	18	60,966,638 (GRCm39)	small insertion	probably benign
RF057:Tcof1	UTSW	18	60,966,637 (GRCm39)	small insertion	probably benign
RF057:Tcof1	UTSW	18	60,966,636 (GRCm39)	small insertion	probably benign
RF057:Tcof1	UTSW	18	60,966,643 (GRCm39)	small insertion	probably benign
RF060:Tcof1	UTSW	18	60,968,816 (GRCm39)	unclassified	probably benign
RF060:Tcof1	UTSW	18	60,968,819 (GRCm39)	unclassified	probably benign
RF063:Tcof1	UTSW	18	60,966,645 (GRCm39)	small insertion	probably benign
RF064:Tcof1	UTSW	18	60,966,646 (GRCm39)	small insertion	probably benign
RF064:Tcof1	UTSW	18	60,966,643 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGACGAGCTTTCCTCATTAAGGG -3'
(R):5'- AGCCTTTAATCAGAGGCGGG -3'

Sequencing Primer
(F):5'- TCCTCATTAAGGGAACAATACAGTGC -3'
(R):5'- AATCAGAGGCGGGATGTTTC -3'

Posted On

2015-04-17